Whole Exome Sequencing in Bicuspid Aortic Valve Patients
Primary Purpose
Bicuspid Aortic Valve
Status
Unknown status
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Extra blood draw samples
additional tissue samples
Sponsored by
About this trial
This is an interventional prevention trial for Bicuspid Aortic Valve
Eligibility Criteria
Inclusion Criteria:
- bicuspid aortic valve, confirmed by transthoracic or transesophageal echocardiography
- With or without an aneurysm of the ascending thoracic aorta nonsyndromic
Exclusion Criteria:
- aortic syndromic pathology
- antecedent of acute articular rhumatism
Sites / Locations
- Assistance Publique Hôpitaux de MarseilleRecruiting
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm Type
Experimental
Active Comparator
Active Comparator
Arm Label
Bicuspid aortic valve (BAV)
healthy subjects related patients with BAV
Tricuspid aortic valve (TAV)
Arm Description
patient with bicuspid aortic valve
healthy control, related to patient with bicuspid aortic valve, at the 1st, 2nd or 3rd degree
patient with aortic stenosis on tricuspid valve
Outcomes
Primary Outcome Measures
number of genetic abnormalities
Secondary Outcome Measures
Full Information
NCT ID
NCT02899624
First Posted
September 9, 2016
Last Updated
September 9, 2016
Sponsor
Assistance Publique Hopitaux De Marseille
1. Study Identification
Unique Protocol Identification Number
NCT02899624
Brief Title
Whole Exome Sequencing in Bicuspid Aortic Valve Patients
Study Type
Interventional
2. Study Status
Record Verification Date
September 2016
Overall Recruitment Status
Unknown status
Study Start Date
January 2014 (undefined)
Primary Completion Date
January 2017 (Anticipated)
Study Completion Date
January 2018 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Assistance Publique Hopitaux De Marseille
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief Summary
Bicuspid aortic valve (BAV), congenital anomaly present in 2% of the population, is defined by the presence of two sigmoid valves instead of three. It is conventionally associated with histological abnormalities of the wall of the ascending aorta, risk factors of aortic dystrophy observed in 50% of cases, and dissection. Long considered an accident of development, the discovery of mutations in the NOTCH1 gene in 2 families alternating BAV and aortic dystrophy suggests the existence of a genetic predisposition and a common genetic origin for these two pathologies.
Data on the genetic basis of the BAV are still limited, but the existence of a large phenotypic diversity suggests the involvement of other genes. The establishment of large collections of DNA will allow great advances in this field.
The purpose of this project is to confirm the existence of a genetic determinism at the origin of the BAV with or without dystrophy of non syndromic ascending aorta, identifying genetic defects associated with the presence of a BAV in a series of candidate genes.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Bicuspid Aortic Valve
7. Study Design
Primary Purpose
Prevention
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
427 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Bicuspid aortic valve (BAV)
Arm Type
Experimental
Arm Description
patient with bicuspid aortic valve
Arm Title
healthy subjects related patients with BAV
Arm Type
Active Comparator
Arm Description
healthy control, related to patient with bicuspid aortic valve, at the 1st, 2nd or 3rd degree
Arm Title
Tricuspid aortic valve (TAV)
Arm Type
Active Comparator
Arm Description
patient with aortic stenosis on tricuspid valve
Intervention Type
Biological
Intervention Name(s)
Extra blood draw samples
Intervention Type
Biological
Intervention Name(s)
additional tissue samples
Primary Outcome Measure Information:
Title
number of genetic abnormalities
Time Frame
3 years
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria:
bicuspid aortic valve, confirmed by transthoracic or transesophageal echocardiography
With or without an aneurysm of the ascending thoracic aorta nonsyndromic
Exclusion Criteria:
aortic syndromic pathology
antecedent of acute articular rhumatism
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Jean François Avierinos
Email
jean-francois.avierinos@ap-hm.fr
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Urielle Desalbres
Organizational Affiliation
Assistance Publique Hôpitaux de Marseille
Official's Role
Study Director
Facility Information:
Facility Name
Assistance Publique Hôpitaux de Marseille
City
Marseille
ZIP/Postal Code
13005
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Jean-François Avierinos
Email
jean-francois.avierinos@ap-hm.fr
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
Whole Exome Sequencing in Bicuspid Aortic Valve Patients
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